Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree

• Published in: International journal of ophthalmology Vol. 11; no. 6; pp. 918 - 922
• Main Authors: Zhang, Lu-Si, Li, Hai-Bo, Zeng, Jun, Yang, Yan, Ding, Chun
• Format: Journal Article
• Language: English
• Published: China International Journal of Ophthalmology Press 18.06.2018; Press of International Journal of Ophthalmology (IJO PRESS)
• Subjects: Basic Research; COL18A1; Knobloch syndrome; whole exome sequencing; COL18A1; Knobloch syndrome; whole exome sequencing

To explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family. Ocular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the two patients. Sanger sequencing was utilized to validate the presence of va...